Search on: MENKES KINKY HAIR SYNDROME 
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Descriptor English:   Menkes Kinky Hair Syndrome 
Descriptor Spanish:   Síndrome del Pelo Ensortijado 
Descriptor Portuguese:   Síndrome dos Cabelos Torcidos 
Synonyms English:   Congenital Hypocupremia
Copper Transport Disease
Kinky Hair Disease
Menkea Syndrome
Menkes Disease
Menkes' Disease
Steely Hair Disease
X-Linked Copper Deficiency
Congenital Hypocupremias
Copper Deficiencies, X-Linked
Copper Deficiency, X-Linked
Copper Transport Diseases
Deficiencies, X-Linked Copper
Deficiency, X-Linked Copper
Disease, Copper Transport
Disease, Steely Hair
Diseases, Copper Transport
Diseases, Kinky Hair
Diseases, Menkes'
Diseases, Steely Hair
Hair Diseases, Kinky
Hair Diseases, Steely
Hypocupremias, Congenital
Kinky Hair Diseases
Menkea Syndromes
Menkes' Diseases
Steely Hair Diseases
Steely Hair Syndromes
Syndrome, Menkea
Syndrome, Steely Hair
Syndromes, Menkea
Syndromes, Steely Hair
Transport Disease, Copper
Transport Diseases, Copper
X Linked Copper Deficiency
X-Linked Copper Deficiencies
Menkes Syndrome
Steely Hair Syndrome
Kinky Hair Syndrome
Hypocupremia, Congenital  
Tree Number:   C10.228.140.163.100.540
C10.597.606.643.455.687
C16.320.322.500.687
C16.320.400.525.687
C16.320.565.189.540
C16.320.565.618.590
C17.800.329.968
C18.452.132.100.540
C18.452.648.189.540
C18.452.648.618.590
Definition English:   An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125) 
See Related English:   Ceruloplasmin
Copper-transporting ATPases
Protein-Lysine 6-Oxidase
Superoxide Dismutase
 
History Note English:   2000(1977) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   7882 
Unique Identifier:   D007706 

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